Endocrine Abstracts

Introduction: Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder causing progressive muscular degeneration and weakness. The survival of patients with DMD has improved with multi-disciplinary team input. Sub-specialties have moved towards anticipatory diagnostic and therapeutic strategies which focus on prevention and treatment of modifiable disease complications. Endocrine complications of DMD include impaired growth, delayed pu...

Objective: To describe outcomes among children with hypophosphatasia (HPP) receiving asfotase alfa.Methods: This prospective, real-world study used data from all children with HPP receiving asfotase alfa in the UK Managed Access Agreement (MAA) to assess functional, health-related quality-of-life, and safety outcomes. Visits occurred at MAA enrolment, 3 and 6 months after enrolment, and every 6 months thereafter. Assessm...

Background: Obstructive sleep apnoea (OSA) is characterised by recurrent upper airway obstruction during sleep resulting in abnormal ventilation and sleep patterns. Paediatric obesity is associated with a significantly increased OSA risk. Prompt recognition and management of OSA is important to reduce the risk of complications, including cardiovascular, growth, behavioural and glycaemic. We describe initial experiences of using the Paediatric Sleep Questionnai...

Introduction: Our current local management guidelines for Graves’ Disease (GD) in children and young people (CYP) do not include routine screening for coeliac disease (CD). However, ad hoc testing of patients in this cohort pointed to a high incidence of positive tissue transglutaminase (TTG) results.Aims/Objectives: 1. To determine the incidence of CD in patients in our service diagnosed with GD. 2. To establish if...

Growth hormone (GH) excess is extremely rare in children. It can be associated with endocrine syndromes including MEN1, Carney complex and Mc Cune Albright syndrome. We describe two cases of GH excess and their management. Patient A (15yr M) presented with fibrous dysplasia affecting his cranium and a large café-au-lait spot covering his right scapula. His height was 193cm (2.6 SDS) and BMI 29.6kg/m2(2.3SDS). His IGF1 was 84.1nmol/L (22.5 – 65.9) and GH did not suppr...